Canonical Allele Identifier: CA6357299

Gene: FLI1

Linked Data

• ClinVar Variation Id: 785894
• ClinVar RCV Id: RCV000967864
• dbSNP Id: rs752016751
• ExAC: 11:128680520 C / T
• gnomAD v2: 11-128680520-C-T
• gnomAD v3: 11-128810625-C-T
• gnomAD v4: 11-128810625-C-T
• COSMIC: COSM79866 ; COSM5826931
• MyVariant Identifiers: chr11:g.128680520C>T (hg19) ; chr11:g.128810625C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128810625C>T , CM000673.2:g.128810625C>T	GRCh38
NC_000011.9:g.128680520C>T , CM000673.1:g.128680520C>T	GRCh37
NC_000011.8:g.128185730C>T	NCBI36
NG_032912.1:g.129091C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696982.1:c.1017C>T	ENSP00000513017.1:p.Tyr339=
ENST00000527786.7:c.996C>T MANE Select	ENSP00000433488.2:p.Tyr332=
ENST00000281428.12:c.798C>T	ENSP00000281428.8:p.Tyr266=
ENST00000344954.10:c.417C>T	ENSP00000339627.7:p.Tyr139=
ENST00000429175.7:c.*918C>T	ENSP00000399985.3:n.*918C>T
ENST00000527786.6:c.996C>T	ENSP00000433488.2:p.Tyr332=
ENST00000528790.1:n.3579C>T
ENST00000534087.3:c.897C>T	ENSP00000432950.1:p.Tyr299=
ENST00000608303.5:c.*388C>T	ENSP00000477262.1:n.*388C>T
NM_001167681.2:c.897C>T	NP_001161153.1:p.Tyr299=
NM_001271010.1:c.798C>T	NP_001257939.1:p.Tyr266=
NM_001271012.1:c.417C>T	NP_001257941.1:p.Tyr139=
NM_002017.4:c.996C>T	NP_002008.2:p.Tyr332=
XM_011542701.1:c.897C>T	XP_011541003.1:p.Tyr299=
XM_011542702.1:c.870C>T	XP_011541004.1:p.Tyr290=
XM_011542701.2:c.897C>T	XP_011541003.1:p.Tyr299=
XM_017017405.1:c.897C>T	XP_016872894.1:p.Tyr299=
XM_017017406.1:c.897C>T	XP_016872895.1:p.Tyr299=
NM_002017.5:c.996C>T MANE Select	NP_002008.2:p.Tyr332=
NM_001167681.3:c.897C>T	NP_001161153.1:p.Tyr299=
NM_001271010.2:c.798C>T	NP_001257939.1:p.Tyr266=
NM_001271012.2:c.417C>T	NP_001257941.1:p.Tyr139=